Variant report

Variant	nsv825385
Chromosome Location	chr10:54878972-54950501
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:54887739..54890403-chr10:54891523..54893233,2	MCF-7	breast:
2	chr10:54912408..54915011-chr10:54917539..54919981,2	MCF-7	breast:
3	chr10:54912408..54915011-chr10:54917539..54919981,2	MCF-7	breast:
4	chr10:54887739..54890403-chr10:54891523..54893233,2	MCF-7	breast:

Extended variants
information (count: 879 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:879 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114031796	chr10:54878992-54878993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75530775	chr10:54879006-54879007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140415343	chr10:54879012-54879013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540046705	chr10:54879016-54879017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540525910	chr10:54879025-54879026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs16937216	chr10:54879047-54879048	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs577407873	chr10:54879052-54879053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546076864	chr10:54879056-54879057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71952379	chr10:54879105-54879106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563025502	chr10:54879186-54879187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77082737	chr10:54879193-54879194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs16937219	chr10:54879218-54879219	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs184120967	chr10:54879232-54879233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs66977955	chr10:54879312-54879313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs546916208	chr10:54879326-54879327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544166635	chr10:54879334-54879335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs67310348	chr10:54879336-54879337	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs373203047	chr10:54879352-54879353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532367188	chr10:54879383-54879384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35745295	chr10:54879404-54879405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533013489	chr10:54879430-54879431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200249316	chr10:54879458-54879459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11003393	chr10:54879475-54879476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571011814	chr10:54879499-54879500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540471134	chr10:54879511-54879512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552073112	chr10:54879534-54879535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560083408	chr10:54879583-54879584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11818241	chr10:54879584-54879585	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs529015820	chr10:54879595-54879596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554194358	chr10:54879596-54879597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567726987	chr10:54879602-54879603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533535124	chr10:54879606-54879607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554495216	chr10:54879608-54879609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547114452	chr10:54879623-54879624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372482929	chr10:54879624-54879625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577444852	chr10:54879629-54879630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs398013465	chr10:54879644-54879645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549362336	chr10:54879645-54879646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11814553	chr10:54879684-54879685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548779767	chr10:54879685-54879686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576663825	chr10:54879693-54879694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189542769	chr10:54879732-54879733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140736400	chr10:54879744-54879745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181145269	chr10:54879745-54879746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75615500	chr10:54879765-54879766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150083567	chr10:54879771-54879772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138739084	chr10:54879791-54879792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78795742	chr10:54879826-54879827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115868349	chr10:54879851-54879852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142736052	chr10:54879866-54879867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Intellectual disability	21948486	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Colorectal cancer	16774939	CNVD
Autism	20858243	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:54877200-54881000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:54879800-54880200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr10:54881000-54881200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr10:54881200-54884000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr10:54881400-54881800	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr10:54881400-54883000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr10:54881800-54882600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr10:54882600-54883200	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr10:54883000-54884000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr10:54883600-54884200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr10:54884000-54884400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr10:54884000-54884400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr10:54891600-54894400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr10:54893400-54893800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr10:54893400-54895000	Enhancers	HUVEC	blood vessel
16	chr10:54893800-54900000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr10:54894000-54896200	Enhancers	HepG2	liver
18	chr10:54894400-54898000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr10:54894800-54895600	Enhancers	Fetal Intestine Large	intestine
20	chr10:54894800-54895800	Enhancers	Fetal Intestine Small	intestine
21	chr10:54895800-54900600	Weak transcription	Fetal Intestine Small	intestine
22	chr10:54898000-54898400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr10:54898400-54900000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr10:54899800-54900400	Enhancers	NHEK	skin
25	chr10:54900000-54900600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr10:54900000-54900800	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr10:54900000-54901200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr10:54900400-54900800	Enhancers	Placenta	Placenta
29	chr10:54900600-54900800	Enhancers	Fetal Intestine Small	intestine
30	chr10:54900800-54902600	Weak transcription	Fetal Intestine Small	intestine
31	chr10:54902200-54902600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr10:54902600-54903200	Enhancers	Fetal Intestine Small	intestine
33	chr10:54908800-54909000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
34	chr10:54909400-54909600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
35	chr10:54910200-54910400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
36	chr10:54910200-54910400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
37	chr10:54910200-54910400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
38	chr10:54910200-54910400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
39	chr10:54910800-54911000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
40	chr10:54918000-54918400	Enhancers	Stomach Mucosa	stomach
41	chr10:54922000-54922600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr10:54922600-54923200	Enhancers	Liver	Liver
43	chr10:54934000-54934400	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr10:54934000-54934400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr10:54935000-54935200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr10:54936800-54938000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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